• Gene id: 64063

Gene Summary

• Gene Symbol: PRSS22   Gene   UCSC   Ensembl
• Aliases: BSSP-4, SP001LA, hBSSP-4
• Gene name: serine protease 22
• Alternate names: brain-specific serine protease 4, prosemin, protease, serine 22, protease, serine S1 family member 22, serine protease 26, tryptase epsilon,
• Gene location: 16p13.3 (2858629: 2852728)     Exons: 7     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]
• OMIM: 609343

Protein Summary

• Protein general information: Q9GZN4  
  • Name: Brain specific serine protease 4 (BSSP 4) (EC 3.4.21. ) (Serine protease 22) (Serine protease 26) (Tryptase epsilon)
  • Length: 317  
  • Mass: 33732
  • Tissue specificity: Expressed abundantly in the epithelial cells of the airways, including trachea, esophagus and fetal lung. Scarce in adult lung. Expressed at low levels in placenta, pancreas, prostate and thyroid gland. {ECO
• Sequence:

  MVVSGAPPALGGGCLGTFTSLLLLASTAILNAARIPVPPACGKPQQLNRVVGGEDSTDSEWPWIVSIQKNGTHHC
  AGSLLTSRWVITAAHCFKDNLNKPYLFSVLLGAWQLGNPGSRSQKVGVAWVEPHPVYSWKEGACADIALVRLERS
  IQFSERVLPICLPDASIHLPPNTHCWISGWGSIQDGVPLPHPQTLQKLKVPIIDSEVCSHLYWRGAGQGPITEDM
  LCAGYLEGERDACLGDSGGPLMCQVDGAWLLAGIISWGEGCAERNRPGVYISLSAHRSWVEKIVQGVQLRGRAQG
  GGALRAPSQGSGAAARS

• Structural information:
  • Protein Domains: (50..29-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00274"-)
  • Interpro: IPR009003  IPR001314  IPR001254  IPR018114  IPR033116  
  • Prosite: PS50240 PS00134 PS00135
  • CDD: cd00190
  • STRING: ENSP00000161006
• Other Databases: GeneCards:  PRSS22  Malacards:  PRSS22

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq